Varaico: Literature-Extracted Genetic Variants

MUC20

119 papers

RefSeq Summary

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this f...

Pfam Domains

MUC20aa 175–193UCSCMucin-20 protein

MUC20aa 194–212UCSCMucin-20 protein

MUC20aa 213–231UCSCMucin-20 protein

MUC20aa 232–250UCSCMucin-20 protein

MUC20aa 251–269UCSCMucin-20 protein

MUC20aa 270–288UCSCMucin-20 protein

Gene Aliases

HGNC Name

mucin 20, cell surface associated

HGNC Alias Symbols

FLJ14408; KIAA1359

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282506.2

p.M1insFs

c.2dupT

Surrounding Variants

8 papers

NM_001282506.2

p.C3S

c.7T>A

8 papers

NM_001282506.2

p.C3S

c.8G>C

1 paper

NM_001282506.2

p.L4delFs

c.12delC

1 paper

NM_001282506.2

p.A8T

c.22G>A

1 paper

NM_001282506.2

p.A8S

c.22G>T

1 paper

NM_001282506.2

p.F12del1

c.34_35delTTC

1 paper

NM_001282506.2

p.W16R

c.46T>A

1 paper

NM_001282506.2

p.A25G

c.74C>G

1 paper

NM_001282506.2

p.T34_M36del3

c.100_107del9

1 paper

NM_001282506.2

p.D39D

c.117C>T

1 paper

NM_001282506.2

p.M46V

c.136A>G

1 paper

NM_001282506.2

p.T47A

c.139A>G